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Updated: Feb 4, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Secondary, AA, Amyloidosis
Riccardo Papa1, Helen J Lachmann2
1Autoinflammatory Diseases and Immunodeficiencies Centre, Pediatric and Rheumatology Clinic, Giannina Gaslini Institute, University of Genoa, Via Gerolamo Gaslini 5, Genova 16147, Italy.
Abstract:
Secondary, AA, amyloidosis is a rare systemic complication that can develop in any long-term inflammatory disorder, and is characterized by the extracellular deposition of fibrils derived from serum amyloid A (SAA) protein. SAA is an acute-phase reactant synthetized largely by hepatocytes under the transcriptional regulation of proinflammatory cytokines. The kidney is the major involved organ with proteinuria as first clinical manifestation; renal biopsy is the commonest diagnostic investigation. Targeted anti-inflammatory treatment promotes normalization of circulating SAA levels preventing amyloid deposition and renal damage. Novel therapies aimed at promoting clearance of existing amyloid deposits soon may be an effective treatment approach.
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